Charcot-Marie-Tooth Disease Type 2A1
Disease ID: disease_node_18863
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G60.0, MIM:118210, ORDO:99946 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050539 |
| Data Source | DOID |
| Synonyms | CMT2A1, Charcot-Marie-Tooth disease neuronal type 2A1, Charcot-Marie-Tooth neuropathy type 2A1, HMSN IIA1, HMSN2A1, autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1, hereditary motor and sensory neuropathy IIA1 |
| Doid Label | Charcot-Marie-Tooth disease type 2A1 |
| Doid Description | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18863 |
| Doid Id | DOID_0110154 |
| Label | Charcot-Marie-Tooth Disease Type 2A1 |
- Outgoing r'ship
SUBCLASS_OFto/from Charcot-Marie-Tooth Disease Type 2(ID:disease_node_18839) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)